| 2022 | Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
| CANCER CELL INTERNATIONAL |
| 2022 | Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
| GENES |
| 2020 | Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
| SCIENTIFIC REPORTS |
| 2021 | Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers
| SCIENTIFIC REPORTS |
| 2019 | Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities | PEDIATRIC NEUROLOGY |
| 2023 | RAD51/geminin/γH2AX immunohistochemical expression predicts platinum-based chemotherapy response in ovarian high-grade serous carcinoma
| JOURNAL OF GYNECOLOGIC ONCOLOGY |
| 2022 | Rare Gene Rearrangement t(11;22)(q23;q13)/ KMT2A-EP300 in Therapy-related Acute Myeloid Leukemia: A Case Report
| ANNALS OF LABORATORY MEDICINE |
| 2022 | Real-world data on prognostic value of measurable residual disease assessment by fragment analysis or next-generation sequencing in multiple myeloma | BRITISH JOURNAL OF HAEMATOLOGY |
| 2021 | Real-world data on the survival outcome of patients with newly diagnosed Waldenström macroglobulinemia
| KOREAN JOURNAL OF INTERNAL MEDICINE |
| 2020 | Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
| FRONTIERS IN NEUROLOGY |
| 2022 | Recommendations for the Verification of Quantitative Molecular Hemato-Oncology Tests
| Laboratory Medicine Online |
| 2021 | Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
| SCIENTIFIC REPORTS |
| 2022 | Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer
| Laboratory Medicine Online |
| 2024 | Serial Circulating Tumor DNA Analysis with a Tumor-Naïve Next-Generation Sequencing Panel Detects Minimal Residual Disease and Predicts Outcome in Ovarian Cancer | CANCER RESEARCH |
| 2021 | Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring | OCULAR IMMUNOLOGY AND INFLAMMATION |
| 2020 | SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization
| HUMAN MOLECULAR GENETICS |
| 2018 | SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation. | ANNALS OF HEMATOLOGY |
| 2019 | Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
| PLoS One |
| 2019 | Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
| Scientific Reports |
| 2016 | t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2018 | Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
| 2019 | Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는
| PLOS ONE |
| 2017 | Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment | PSYCHONEUROENDOCRINOLOGY |
| 2017 | The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma
| SCIENTIFIC REPORTS |
| 2018 | The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
| FRONTIERS IN NEUROLOGY |
| 2023 | The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 2020 | The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome
| NATURE CANCER |
| 2021 | The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing
| FRONTIERS IN GENETICS |
| 2019 | The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
| BMC MEDICAL GENETICS |
| 2022 | Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia
| JOURNAL OF CANCER |
| 2019 | Trends in contralateral prophylactic mastectomy rate according to clinicopathologic and socioeconomic status
| ANNALS OF SURGICAL TREATMENT AND RESEARCH |
| 2021 | TUBB3 M323V Syndrome Presents with Infantile Nystagmus
| GENES |
| 2016 | Usefulness of Flow Cytometric Analysis for Detecting Leptomeningeal Diseases in Non-Hodgkin Lymphoma
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19 | JOURNAL OF INFECTIOUS DISEASES |
| 2017 | Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
| ONCOTARGET |
| 2018 | Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer
| BMC CANCER |
| 2020 | Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma
| HAEMATOLOGICA |
| 2021 | 급성백혈병 진단검사 결과보고서의 표준 및 지침: 골수검사, 유세포검사, 세포/분자유전검사
| Laboratory Medicine Online |
| 2022 | 순환종양핵산 검사의 임상 적용
| Laboratory Medicine Online |
| 2016 | 유전체 의학 시대를 맞이한 유전성 유방암-난소암 증후군 유전 검사의 임상적 함의: 임상의사가 바라본 전망
| Journal of Breast Disease |
| 2022 | 조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고
| Laboratory Medicine Online |
| 2019 | 진단상의 어려움: 전신성 자가면역 질환의 증상을 모방하는 원발성 골수 광범위큰B세포림프종 진단
| Laboratory Medicine Online |
| 2021 | 혈액종양 분야의 차세대염기서열분석법 국내 실태 조사 (2017-2018)
| Laboratory Medicine Online |
